Incidental Mutation 'IGL02000:Arid5a'
ID183017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arid5a
Ensembl Gene ENSMUSG00000037447
Gene NameAT rich interactive domain 5A (MRF1-like)
SynonymsD430024K22Rik, Mrf1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL02000
Quality Score
Status
Chromosome1
Chromosomal Location36307733-36324029 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36319497 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 450 (F450S)
Ref Sequence ENSEMBL: ENSMUSP00000110683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097778] [ENSMUST00000115029] [ENSMUST00000115031] [ENSMUST00000115032] [ENSMUST00000116629] [ENSMUST00000126413] [ENSMUST00000137906] [ENSMUST00000142319]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097778
AA Change: F385S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: F385S

DomainStartEndE-ValueType
ARID 76 167 4.69e-34 SMART
BRIGHT 80 172 8.63e-31 SMART
low complexity region 453 467 N/A INTRINSIC
low complexity region 512 522 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115029
AA Change: F197S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
AA Change: F197S

DomainStartEndE-ValueType
Blast:ARID 1 85 6e-24 BLAST
low complexity region 265 279 N/A INTRINSIC
low complexity region 324 334 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115031
AA Change: F450S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: F450S

DomainStartEndE-ValueType
ARID 46 232 1.82e-31 SMART
Blast:ARID 281 338 6e-11 BLAST
low complexity region 518 532 N/A INTRINSIC
low complexity region 577 587 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115032
AA Change: F356S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: F356S

DomainStartEndE-ValueType
ARID 47 138 4.69e-34 SMART
BRIGHT 51 143 8.63e-31 SMART
low complexity region 424 438 N/A INTRINSIC
low complexity region 483 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116629
SMART Domains Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447

DomainStartEndE-ValueType
Blast:ARID 22 55 8e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124280
Predicted Effect probably benign
Transcript: ENSMUST00000126413
SMART Domains Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447

DomainStartEndE-ValueType
ARID 46 137 4.69e-34 SMART
BRIGHT 50 142 8.63e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137906
AA Change: F298S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: F298S

DomainStartEndE-ValueType
SCOP:d1ig6a_ 41 98 7e-19 SMART
PDB:2OEH|A 42 98 2e-26 PDB
Blast:ARID 42 186 4e-50 BLAST
low complexity region 366 380 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141121
Predicted Effect probably benign
Transcript: ENSMUST00000142319
SMART Domains Protein: ENSMUSP00000119953
Gene: ENSMUSG00000037447

DomainStartEndE-ValueType
SCOP:d1kkxa_ 49 81 3e-9 SMART
Blast:ARID 56 121 2e-41 BLAST
PDB:2OEH|A 56 121 2e-9 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150747
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced serum interleukin-6 and tumor necrosis factor levels following LPS treatment, and decreased susceptibility to experimental autoimmune encephalomyelitis along with decreased T-helper 17 cell number and increased IFN-gamma producing T cell number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Arid5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Arid5a APN 1 36319433 missense possibly damaging 0.54
IGL02322:Arid5a APN 1 36319416 missense probably benign 0.09
PIT4504001:Arid5a UTSW 1 36317625 missense probably damaging 1.00
R0063:Arid5a UTSW 1 36318564 missense probably damaging 1.00
R0063:Arid5a UTSW 1 36318564 missense probably damaging 1.00
R1556:Arid5a UTSW 1 36320164 nonsense probably null
R1703:Arid5a UTSW 1 36319575 unclassified probably null
R2424:Arid5a UTSW 1 36318501 missense probably damaging 1.00
R4583:Arid5a UTSW 1 36317664 critical splice donor site probably null
R5725:Arid5a UTSW 1 36319130 nonsense probably null
R6056:Arid5a UTSW 1 36319392 missense probably benign 0.01
R7023:Arid5a UTSW 1 36317550 unclassified probably benign
X0020:Arid5a UTSW 1 36319575 unclassified probably null
Posted On2014-05-07